UniProtKB/Swiss-Prot Q9UGM3: Variant p.Thr1961Pro

Scavenger receptor cysteine-rich domain-containing protein DMBT1
Gene: DMBT1
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Variant information Variant position:

1961 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Threonine (T) to Proline (P) at position 1961 (T1961P, p.Thr1961Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and polar (T) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

The number of SRCR and SRCR-interspersed domains is polymorphic in a variety of tumors and may represent the major site of alterations in cancer. Additional information on the polymorphism described.

Sequence information Variant position:

1961 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

2413 The length of the canonical sequence.
Location on the sequence:

FGSGSGPITLDDVECSGTES T LWQCRNRGWFSHNCNHREDA The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         FGSGSGPITLDDVECSGTESTLWQCRNRGWFSHNCNHREDA

Mouse                         FGQGSGLIVLDDVSCSGYESHLWNCHHPGWLVHNCRHSEDA

Rat                           FGQGSGLIVLDDVSCSGYESHLWNCRHPGWLVHNCRHVEDA

Pig                           FGPGSGPITLDDVACSGTESTLWQCRNRGWFSHNCGHSEDA

Rabbit                        FGSGSGPITLDDVNCSGTEATLWQCRSQSWFSHNCGHHEDA

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	20 – 2413	Scavenger receptor cysteine-rich domain-containing protein DMBT1
Domain	1883 – 1986	SRCR 14
Disulfide bond	1911 – 1975
Disulfide bond	1924 – 1985
Disulfide bond	1955 – 1965

Literature citations
Rare mutations of the DMBT1 gene in human astrocytic gliomas.
Mueller W.; Mollenhauer J.; Stockhammer F.; Poustka A.; von Deimling A.;
Oncogene 21:5956-5959(2002)
Cited for: VARIANTS THR-42; TRP-52; LEU-54; ALA-60; LEU-65; LEU-337; SER-357; GLY-364; MET-649; MET-780; TYR-1084; THR-1169; TRP-1176; MET-1545; SER-1732 AND PRO-1961;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.